Abstract
Described are the outcomes of 11 Italian patients with Aicardi-Goutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / blood
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Abnormalities, Multiple / cerebrospinal fluid
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Abnormalities, Multiple / physiopathology*
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Atrophy / congenital
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Atrophy / pathology
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Atrophy / physiopathology*
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Biomarkers / blood
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Biomarkers / cerebrospinal fluid
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Brain / diagnostic imaging
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Brain / pathology
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Brain / physiopathology*
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Calcinosis / congenital
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Calcinosis / pathology
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Calcinosis / physiopathology*
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Cerebrospinal Fluid / chemistry
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Cerebrospinal Fluid / cytology
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Child
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Child, Preschool
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Disease Progression
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Epilepsy / physiopathology*
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Female
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Follow-Up Studies
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Genes, Recessive
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Heredodegenerative Disorders, Nervous System / blood
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Heredodegenerative Disorders, Nervous System / cerebrospinal fluid
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Heredodegenerative Disorders, Nervous System / physiopathology*
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Humans
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Infant
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Infant, Newborn
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Interferon-alpha / blood
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Interferon-alpha / cerebrospinal fluid
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Italy
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Longitudinal Studies
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Male
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Nerve Fibers, Myelinated / pathology
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Radiography
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Rare Diseases
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Skin Diseases / physiopathology
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Syndrome
Substances
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Biomarkers
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Interferon-alpha